medullary cystic disease complex
Medullary cystic disease complex belongs to group of pediatric cystic renal diseases charaterised by progressive tubular atrophy with glomerulosclerosis (chronic tubulointerstitial nephritis) and multiple small medullary cysts.
Epidemiology
There is no recognized gender predilection
Clinical presentation
Presentation with polydipsia and polyuria, due to initial tubular injury, tends to progress to end stage renal failure, growth retardation, lethargy.
Three clinical variants based on age of onset for end stage renal disease (ESRD):
- infantile: before 2 years of age
- juvenile (a.k.a. nephronophthisis): most common form, age of onset 10
- adolescent (a.k.a. medullary cystic kidney disease): usually develops in patients in their thirties
There can be a clinical triad comprising of uremia, anemia, and salt wasting (hyponatremia, hypokalemia).
Pathology
It comprises a group of related conditions characterized by multiple cysts typically at the corticomedullary junction and medulla. The medullary cysts are small. There can be associated atrophy and fibrosis of the basement membrane of the proximal and distal tubules which leads into interstitial fibrosis and end stage renal disease.
Variants
- familial nephronophthisis: autosomal recessive (40%)
- sporadic: non-familial (20%)
- retinal renal syndrome: autosomal recessive (15%) associated with retinitis pigmentosa
- adult onset medullary cystic disease: autosomal dominant (15%)
Radiographic features
Normal to small kidneys with multiple small (<1.5 cm) medullary cysts (sometimes cysts are too small to visualize) at the corticomedullary junction.
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